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Novel mutations in ATP13A2 associated with mixed neurological presentations and iron toxicity due to nonsense-mediated decay

dc.contributor.authorGÜLTEKİN, MURAT
dc.contributor.authorKirimtay, Koray
dc.contributor.authorTemizci, Benan
dc.contributor.authorYapici, Zuhal
dc.contributor.authorKarabay Korkmaz, Arzu
dc.date.accessioned2021-03-02T15:45:16Z
dc.date.available2021-03-02T15:45:16Z
dc.identifier.citationKirimtay K., Temizci B., GÜLTEKİN M., Yapici Z., Karabay Korkmaz A., "Novel mutations in ATP13A2 associated with mixed neurological presentations and iron toxicity due to nonsense-mediated decay", BRAIN RESEARCH, cilt.1750, 2021
dc.identifier.issn0006-8993
dc.identifier.otherav_b81b5c2b-48b9-4521-98f6-8c7438e8eed8
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/1655
dc.identifier.urihttps://doi.org/10.1016/j.brainres.2020.147167
dc.description.abstractBackground: Kufor-Rakeb Syndrome (KRS) is an autosomal recessive disease characterized by Parkinsonism, pyramidal signs, dementia, and supranuclear gaze palsy. KRS is caused by mutations in ATP13A2 producing a transmembrane protein responsible for the regulation of intracellular inorganic cations.
dc.language.isoeng
dc.subjectGeneral Neuroscience
dc.subjectNeuroscience (miscellaneous)
dc.subjectSensory Systems
dc.subjectHuman-Computer Interaction
dc.subjectLife Sciences
dc.subjectPhysical Sciences
dc.subjectNEUROSCIENCES
dc.subjectSinirbilim ve Davranış
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectYaşam Bilimleri
dc.subjectTemel Bilimler
dc.subjectDevelopmental Neuroscience
dc.subjectCellular and Molecular Neuroscience
dc.subjectCognitive Neuroscience
dc.titleNovel mutations in ATP13A2 associated with mixed neurological presentations and iron toxicity due to nonsense-mediated decay
dc.typeMakale
dc.relation.journalBRAIN RESEARCH
dc.contributor.departmentİstanbul Teknik Üniversitesi , ,
dc.identifier.volume1750
dc.contributor.firstauthorID2504237


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